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Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2mutations in isolated AMRF features

  • Franziska Hopfner1, 2Email author,
  • Barbara Schormair1,
  • Franziska Knauf1,
  • Achim Berthele3, 16,
  • Thomas R Tölle3, 16,
  • Ralf Baron4, 16,
  • Christoph Maier5, 16,
  • Rolf-Detlef Treede6, 16,
  • Andreas Binder4, 16,
  • Claudia Sommer7, 16,
  • Christian Maihöfner8, 16,
  • Wolfram Kunz9,
  • Friedrich Zimprich10,
  • Uwe Heemann11,
  • Arne Pfeufer1, 2,
  • Michael Näbauer12,
  • Stefan Kääb12,
  • Barbara Nowak13,
  • Christian Gieger14,
  • Peter Lichtner1, 2,
  • Claudia Trenkwalder15,
  • Konrad Oexle2 and
  • Juliane Winkelmann1, 2, 3Email author
Contributed equally
BMC Neurology201111:134

DOI: 10.1186/1471-2377-11-134

Received: 19 June 2011

Accepted: 27 October 2011

Published: 27 October 2011

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Open Peer Review reports

Pre-publication versions of this article and author comments to reviewers are available by contacting info@biomedcentral.com.

Original Submission
19 Jun 2011 Submitted Original manuscript
Resubmission - Version 2
Submitted Manuscript version 2
3 Jul 2011 Reviewed Reviewer Report - Antonio Gambardella
25 Jul 2011 Reviewed Reviewer Report - Alessandro De Luca
28 Aug 2011 Author responded Author comments - Franziska Hopfner
Resubmission - Version 3
28 Aug 2011 Submitted Manuscript version 3
4 Sep 2011 Reviewed Reviewer Report - Antonio Gambardella
16 Sep 2011 Reviewed Reviewer Report - Alessandro De Luca
3 Oct 2011 Author responded Author comments - Franziska Hopfner
Resubmission - Version 4
3 Oct 2011 Submitted Manuscript version 4
11 Oct 2011 Author responded Author comments - Franziska Hopfner
Resubmission - Version 5
11 Oct 2011 Submitted Manuscript version 5
20 Oct 2011 Author responded Author comments - Franziska Hopfner
Resubmission - Version 6
20 Oct 2011 Submitted Manuscript version 6
Publishing
27 Oct 2011 Editorially accepted
27 Oct 2011 Article published 10.1186/1471-2377-11-134

How does Open Peer Review work?

Open peer review is a system where authors know who the reviewers are, and the reviewers know who the authors are. If the manuscript is accepted, the named reviewer reports are published alongside the article. Pre-publication versions of the article and author comments to reviewers are available by contacting info@biomedcentral.com. All previous versions of the manuscript and all author responses to the reviewers are also available.

You can find further information about the peer review system here.

Authors’ Affiliations

(1)
Institute of Human Genetics, Helmholtz Zentrum München-German Research Center for Environmental Health
(2)
Institute of Human Genetics, Klinikum rechts der Isar, Technische Universität München
(3)
Department of Neurology, Klinikum rechts der Isar, Technische Universität München
(4)
Sektion Neurologische Schmerzforschung und -therapie, Department of Neurology, Christian-Albrechts-Universität zu Kiel
(5)
BG University Hospital Bergmannsheil Bochum
(6)
Lehrstuhl für Neurophysiology, Medizinische Fakultät Mannheim der Ruprecht-Karls-Universität Heidelberg
(7)
Department of Neurology, Universitätsklinikum Würzburg
(8)
Department of Neurology, Friedrich-Alexander-Universität Erlangen-Nürnberg
(9)
Department of Epileptology and Life & Brain Center, Universität Bonn
(10)
Department of Clinical Neurology, Medical University of Vienna
(11)
Department of Nephrology, Klinikum rechts der Isar, Technische Universität München
(12)
Department of Medicine I, University Hospital Grosshadern, Ludwig-Maximilians-Universität München
(13)
Zentrum für Nieren- und Hochdruckkrankheiten, Immenstadt and Oberstdorf
(14)
Institute of Epidemiology, Helmholtz Zentrum München, German Research Center for Environmental Health
(15)
Paracelsus-Elena-Klinik, Center of Parkinsonism and Movement Disorders
(16)
Member of the German Research Network on Neuropathic Pain (DFNS).

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